Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660571_152660572del , CM000669.2:g.152660571_152660572del | GRCh38 |
| NC_000007.13:g.152357656_152357657del , CM000669.1:g.152357656_152357657del | GRCh37 |
| NC_000007.12:g.151988589_151988590del | NCBI36 |
| NG_027988.1:g.20597_20598del | |
| NG_027988.2:g.20597_20598del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-47-11206_-47-11205del | ENSP00000513758.1:n.-47-11206_-47-11205del | |
| ENST00000698507.1:n.321_322del | ||
| ENST00000359321.2:c.121+132_121+133del MANE Select | ENSP00000352271.1:n.121+132_121+133del | |
| ENST00000359321.1:c.121+132_121+133del | ENSP00000352271.1:n.121+132_121+133del | |
| ENST00000495707.1:n.143+132_143+133del | ||
| NM_005431.1:c.121+132_121+133del | NP_005422.1:n.121+132_121+133del | |
| NM_005431.2:c.121+132_121+133del MANE Select | NP_005422.1:n.121+132_121+133del |